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Fancc Gene Detail
Summary
  • Symbol
    Fancc
  • Name
    Fanconi anemia, complementation group C
  • Synonyms
    Facc
  • Feature Type
    protein coding gene
  • IDs
    MGI:95480
    NCBI Gene: 14088
Location & Maps
more
  • Sequence Map
    Chr13:63304709-63497278 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      192570 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 13, 32.80 cM
  • Mapping Data
    13 experiments
Homology
more
  • Human Ortholog
    FANCC, Fanconi anemia complementation group C
  • Vertebrate Orthologs
    10
  • Human Ortholog
    FANCC, Fanconi anemia complementation group C
    Orthology source: HomoloGene, HGNC
  • Synonyms
    FA3, FAC, FACC
  • Links
    NCBI Gene ID: 2176
    neXtProt AC: NX_Q00597

  • Chr Location
    9q22.3; chr9:95099054-95317709 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Fancc mouse models; 2 with human FANCC associations

Human Disease Mouse Models
       Fanconi Anemia, Complementation Group C; FANCC   OMIM: 227645 View 2 models
       Tracheoesophageal Fistula with or without Esophageal Atresia   OMIM: 189960
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    5 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    34 phenotypes from 2 alleles in 3 genetic backgrounds
    17 phenotypes from multigenic genotypes
    57 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    39
  • Chemically induced (other)
    1
  • Gene trapped
    34
  • Targeted
    4
  • Genomic Mutations
    1 involving Fancc
  • Incidental Mutations
Homozygous null mutants are grossly normal, but chromosome aberrations and sensitivity to DNA crosslinkers are seen. Both sexes have fewer germ cell numbers and impaired fertility. Marrow progenitors show decrease in colony forming ability.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000030853 VEGA Gene Model | MGI Sequence Detail 192570 C57BL/6J ±  kb
transcript OTTMUST00000076339 VEGA | MGI Sequence Detail 2995 Not Applicable  
polypeptide OTTMUSP00000040172 VEGA | MGI Sequence Detail 591 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    1334 from dbSNP Build 142
  • RFLP
Protein
Information
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  • UniProt
    12 Sequences
  • InterPro Domains
    IPR000686 Fanconi anaemia group C protein
Molecular
Reagents
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  • All nucleic 19
    Genomic 1
    cDNA 16
    Primer pair 1
    Other 1

    Microarray probesets 5
Other
Accession IDs
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MGD-MRK-9707, MGI:2145472
References
more
  • Summaries
    All 89
    Developmental Gene Expression 6
    Diseases 5
    Gene Ontology 9
    Phenotypes 57
  • Earliest
    J:1087 Strathdee CA, et al., Evidence for at least four Fanconi anaemia genes including FACC on chromosome 9. Nat Genet. 1992 Jun;1(3):196-8
  • Latest
    J:234489 Sumpter R Jr, et al., Fanconi Anemia Proteins Function in Mitophagy and Immunity. Cell. 2016 May 5;165(4):867-81

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
09/20/2016
MGI 6.05
The Jackson Laboratory